Lower Urinary Tract Dysfunction and Associated Pons Volume in Patients with Wolfram Syndrome

Overview

Journal J Urol

Publisher Wolters Kluwer

Specialty Urology

Date 2018 Jun 9

PMID 29883657

Citations 7

Authors

Kyle O Rove

Gino J Vricella

Tamara Hershey

Muang H Thu

Heather M Lugar

Joel Vetter

Bess A Marshall

Paul F Austin

Affiliations

Soon will be listed here.

Abstract

Purpose: Wolfram syndrome is a neurodegenerative disorder characterized by childhood onset diabetes mellitus, optic nerve atrophy, diabetes insipidus, hearing impairment, and commonly bladder and bowel dysfunction. We hypothesized that there is an association between a smaller pons, which contains the pontine micturition center, and abnormal lower urinary tract function.

Materials And Methods: Patients with genetically confirmed Wolfram syndrome attended an annual multidisciplinary research clinic. Subjects underwent noninvasive urodynamic testing and brain magnetic resonance imaging, and completed validated patient reported outcome measures. Bowel and bladder diaries were completed before visits. Age and gender corrected linear and logistic mixed effects models were used to correlate pons volume, corrected for whole brain size, to urodynamic and patient reported outcomes.

Results: A total of 36 patients attended 142 visits between 2010 and 2016. Mean age was 16.9 years (range 7 to 30) and 64% of patients were female. Functional bladder capacity was decreased in 31% of the patients, normal in 54% and increased in 14%. Of the patients 44% and 54% had abnormal uroflowmetry and post-void residual, respectively, on at least 1 occasion. There was no increase through time in incidence of lower urinary tract dysfunction. Decreased pons volume was associated with increased post-void residual (p = 0.048) and higher PinQ (Pediatric Incontinence Questionnaire) score (p = 0.011), indicating lower quality of life and higher levels of dysfunction.

Conclusions: A significant number of children, adolescents and young adults with Wolfram syndrome have objective evidence of lower urinary tract dysfunction. Decreased pons volume is associated with more abnormal urinary function and lower quality of life in patients with Wolfram syndrome.

Citing Articles

Clinical Trials for Wolfram Syndrome Neurodegeneration: Novel Design, Endpoints, and Analysis Models.

Wang G, Li Z, Chen L, Lugar H, Hershey T medRxiv. 2024; .

PMID: 39314971 PMC: 11419225. DOI: 10.1101/2024.09.10.24313426.

Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models.

Crouzier L, Danese A, Yasui Y, Richard E, Lievens J, Patergnani S Sci Transl Med. 2022; 14(631):eabh3763.

PMID: 35138910 PMC: 9516885. DOI: 10.1126/scitranslmed.abh3763.

Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review.

La Valle A, Piccolo G, Maghnie M, DAnnunzio G Int J Environ Res Public Health. 2021; 18(22).

PMID: 34831749 PMC: 8624443. DOI: 10.3390/ijerph182211994.

Longitudinal progression of diabetes mellitus in Wolfram syndrome: The Washington University Wolfram Research Clinic experience.

Ray M, Chen L, White N, Ni R, Hershey T, Marshall B Pediatr Diabetes. 2021; 23(2):212-218.

PMID: 34792267 PMC: 8844189. DOI: 10.1111/pedi.13291.

Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome.

Samara A, Lugar H, Hershey T, Shimony J AJNR Am J Neuroradiol. 2020; 41(12):2364-2369.

PMID: 33122205 PMC: 7963228. DOI: 10.3174/ajnr.A6831.

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